Analysis of His aminoacyl synthetase.

Analysis performed on 2024-09-30 10:20:23

Number of Proteins Analyzed

Initial Filtered Out Final Blast
Bacteria 42867 603 42264 26267
Archaea 2984 55 2929 1390
Vertebrata 1376 395 981 415
Mammals 985 121 864 134

Number of Variants Analyzed:

Protein Length Pathogenic Variants Benign/Unknown Variants
509 30 460

Domains

Domains
Current Study 1, 50
Guo et al (2010) 3, 43

Results

Mutations in Ancient vs Modern Domains

Current Study

Ancient Domains Modern Domains All Ratio
Number of Residues 460 49 509 9.387755
Number of Variants 437 53 490 8.245283
Number of Pathogenic Variants 29 1 30 29.000000
Number of Benign/Unknown Variants 408 52 460 7.846154
Fisher exact test 0.233066

The Fisher exact test was calculated using a contingency table with the number of pathogenic and benign/unknown variants in ancient and modern domains. The bottom left values.

Guo et al (2010)

Ancient Domains Modern Domains All Ratio
Number of Residues 468 41 509 11.414634
Number of Variants 445 45 490 9.888889
Number of Pathogenic Variants 29 1 30 29.000000
Number of Benign/Unknown Variants 416 44 460 9.454545
Fisher exact test 0.507492

The Fisher exact test was calculated using a contingency table with the number of pathogenic and benign/unknown variants in ancient and modern domains. The bottom left values.

Coverage of the alignment and domain locations

Agreement between the current study and Guo et al (2010)

Conservation of the amino acids in modern and ancient domains

# of sites Ancient # sites Modern Mean Ancient (SD) Mean Modern (SD) Median Ancient Median Modern Mann-Whitney U p-value
Current Study 460 49 0.90 (0.01) 0.74 (0.02) 9.628e-01 7.432e-01 17929.00 5.11e-12
Guo et al (2010) 468 41 0.90 (0.01) 0.73 (0.03) 9.602e-01 7.293e-01 15441.00 4.76e-11

The Mann-Whitney U test was calculated using the conservation scores of the amino acids in ancient and modern domains. The p-value is for the null hypothesis that the conservation scores in ancient domains are greater than in modern domains.

Conservation of the amino acids in modern and ancient domains